- Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly2004 | Second Faculty of Medicine
- Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: A new autosomal recessive disorder1985 | Second Faculty of Medicine
- Subtelomeric Rearrangement as a Cause of Microcephaly, Facial Dysmorp- hia and Mental2007 | Second Faculty of Medicine
- Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish2019 | Second Faculty of Medicine
- Premature chromosome condensation in humans associated with microcephaly and mental retardation: A novel autosomal recessive condition2002 | Central Library of Charles University
- X-linked Microcephaly, Microphthalmia, Microcornea, Congenital Catarct, Hypogenitalism, Mental Deficiency Growth Retardation, Spasticity: Possible New Syndrome1996 | Second Faculty of Medicine
- Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: Redefining a clinical entity2000 | Central Library of Charles University
- Is Zika virus threatening pregnant women, or is it a coincidence and fiction?2016 | First Faculty of Medicine
- Pathway-specific effects of ADSL deficiency on neurodevelopment2022 | First Faculty of Medicine
- Teratogenic phenylketonuria-related embryopathy2007 | Second Faculty of Medicine
- Statement on the pregnancy management with suspicion of Zika virus infection2016 | First Faculty of Medicine, Third Faculty of Medicine
- Special differential diagnostics of growth failure2011 | Faculty of Medicine in Hradec Králové
- Mutations in Microcephalin cause aberrant regulation of chromosome condensation2004 | Central Library of Charles University
- Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability2006 | Second Faculty of Medicine
- Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency2017 | First Faculty of Medicine
- Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier2020 | First Faculty of Medicine, Second Faculty of Medicine
- Considered gastrointestinal reflux disease symptoms2016 | Second Faculty of Medicine
- Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B-12 deficiency - What have we learned?2010 | First Faculty of Medicine
- Different laboratory and muscle biopsy findings in a family with an m.8851T > C mutation in the mitochondrial MTATP6 gene2013 | First Faculty of Medicine, Second Faculty of Medicine
- HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family2022 | Central Library of Charles University
- Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome2004 | Third Faculty of Medicine
- CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans2006 | Faculty of Medicine in Hradec Králové, Central Library of Charles University
- Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency2012 | First Faculty of Medicine
- Congenital and postnatal cytomegalovirus infections2022 | Second Faculty of Medicine
- Nijmegen Breakage Syndrome - neglected primary immunodeficiency2012 | Second Faculty of Medicine
- Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657de15, in three Slav populations2000 | Second Faculty of Medicine
- Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature2017 | Second Faculty of Medicine
- A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome2013 | Second Faculty of Medicine
- Nibrin, a novel DNA double-strand break repair protein, is mutated in nijmegen breakage syndrome1998 | Second Faculty of Medicine
- Megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly: A case study of comorbid Turner's syndrome2019 | First Faculty of Medicine, Second Faculty of Medicine
